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Aliases for TMUB1 Gene

Aliases for TMUB1 Gene

  • Transmembrane And Ubiquitin Like Domain Containing 1 2 3 5
  • Dendritic Cell-Derived Ubiquitin-Like Protein 3 4
  • Hepatocyte Odd Protein Shuttling Protein 3 4
  • Ubiquitin-Like Protein SB144 3 4
  • C7orf21 3 4
  • DULP 3 4
  • Transmembrane And Ubiquitin-Like Domain-Containing Protein 1 3
  • Transmembrane And Ubiquitin-Like Domain Containing 1 2
  • Chromosome 7 Open Reading Frame 21 2
  • Ubiquitin-Like Protein DULP 3
  • SB144 3
  • HOPS 4

External Ids for TMUB1 Gene

Previous HGNC Symbols for TMUB1 Gene

  • C7orf21

Previous GeneCards Identifiers for TMUB1 Gene

  • GC07M150409
  • GC07M150778
  • GC07M144590

Summaries for TMUB1 Gene

GeneCards Summary for TMUB1 Gene

TMUB1 (Transmembrane And Ubiquitin Like Domain Containing 1) is a Protein Coding gene. An important paralog of this gene is TMUB2.

UniProtKB/Swiss-Prot for TMUB1 Gene

  • Involved in sterol-regulated ubiquitination and degradation of HMG-CoA reductase HMGCR (PubMed:21343306). Involved in positive regulation of AMPA-selective glutamate receptor GRIA2 recycling to the cell surface (By similarity). Acts as negative regulator of hepatocyte growth during regeneration (By similarity).

  • iHOPS: May contribute to the regulation of translation during cell-cycle progression. May contribute to the regulation of cell proliferation (By similarity). May be involved in centrosome assembly. Modulates stabilization and nucleolar localization of tumor suppressor CDKN2A and enhances association between CDKN2A and NPM1 (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMUB1 Gene

Genomics for TMUB1 Gene

Regulatory Elements for TMUB1 Gene

Enhancers for TMUB1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F150959 1.8 VISTA Ensembl ENCODE 10.7 +120.8 120795 7.2 HDGF PKNOX1 ARNT CREB3L1 ZNF143 KLF13 REST TBX21 KAT8 SREBF1 AOC1 ATG9B ABCB8 ENSG00000243433 AGAP3 TMUB1 KCNH2 LOC105375567
GH07F151007 1.5 FANTOM5 ENCODE 11.2 +72.4 72420 7.7 HDGF PKNOX1 ARNT CREB3L1 ZFP64 ARID4B DMAP1 SLC30A9 CBX5 ZNF143 SLC4A2 NOS3 KCNH2 RARRES2 ASIC3 CDK5 ENSG00000244151 FASTK TMUB1 AGAP3
GH07F151038 1.3 Ensembl ENCODE 11.8 +44.2 44235 2.6 HDGF ATF1 PKNOX1 ARNT CREB3L1 SIN3A GLIS2 GATA2 FOS ZNF263 ENSG00000244151 TMUB1 FASTK AGAP3 ABCB8 ASIC3 ENSG00000243433
GH07F150897 1.5 FANTOM5 Ensembl ENCODE 10.1 +185.4 185444 1.9 HDGF CBX3 ARNT CREB3L1 ZNF2 RAD21 ZNF121 CBX5 ZNF143 ZMIZ1 KCNH2 AOC1 NOS3 TMEM176A TMEM176B ATG9B ABCB8 ENSG00000243433 SLC4A2 AGAP3
GH07F150968 1.4 VISTA Ensembl ENCODE 10.7 +112.7 112720 4.7 HDGF HDAC1 PKNOX1 BMI1 CBX5 ETV6 EGR2 SMARCA5 CBFB JUNB AOC1 ATG9B ABCB8 ENSG00000243433 SLC4A2 TMUB1 AGAP3 ENSG00000244151 FASTK KCNH2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMUB1 on UCSC Golden Path with GeneCards custom track

Promoters for TMUB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001565013 246 1401 HDGF ATF1 PKNOX1 ARNT CREB3L1 ARID4B SIN3A YBX1 ZNF48 ZNF2

Genomic Location for TMUB1 Gene

Chromosome:
7
Start:
151,081,080 bp from pter
End:
151,083,546 bp from pter
Size:
2,467 bases
Orientation:
Minus strand

Genomic View for TMUB1 Gene

Genes around TMUB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMUB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMUB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMUB1 Gene

Proteins for TMUB1 Gene

  • Protein details for TMUB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BVT8-TMUB1_HUMAN
    Recommended name:
    Transmembrane and ubiquitin-like domain-containing protein 1
    Protein Accession:
    Q9BVT8
    Secondary Accessions:
    • D3DX06
    • Q53AQ2

    Protein attributes for TMUB1 Gene

    Size:
    246 amino acids
    Molecular mass:
    26261 Da
    Quaternary structure:
    • Interacts with EEF1A1, GRIA2, GRIP1, CAMLG, TUBG1 (By similarity). Interacts with NPM1 and CDKN2A; TMUB1 can enhance interaction between NPM1 and CDKN2A and is proposed to bridge the proteins; proposed to be mediated by iHOPS (By similarity). Interacts with ERLIN2 and AMFR; TMUB1 promotes the interaction of ERLIN2 with AMFR (PubMed:21343306).

neXtProt entry for TMUB1 Gene

Post-translational modifications for TMUB1 Gene

  • iHOPS: Processed by regulated intramembrane proteolysis (RIP)in the N-terminus to release iHOPS from membranes (By similarity).
  • Ubiquitination at Lys 108 and Lys 129
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TMUB1 Gene

Domains & Families for TMUB1 Gene

Protein Domains for TMUB1 Gene

Suggested Antigen Peptide Sequences for TMUB1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BVT8

UniProtKB/Swiss-Prot:

TMUB1_HUMAN :
  • Contains 1 ubiquitin-like domain.
Domain:
  • Contains 1 ubiquitin-like domain.
genes like me logo Genes that share domains with TMUB1: view

No data available for Gene Families for TMUB1 Gene

Function for TMUB1 Gene

Molecular function for TMUB1 Gene

UniProtKB/Swiss-Prot Function:
Involved in sterol-regulated ubiquitination and degradation of HMG-CoA reductase HMGCR (PubMed:21343306). Involved in positive regulation of AMPA-selective glutamate receptor GRIA2 recycling to the cell surface (By similarity). Acts as negative regulator of hepatocyte growth during regeneration (By similarity).
UniProtKB/Swiss-Prot Function:
iHOPS: May contribute to the regulation of translation during cell-cycle progression. May contribute to the regulation of cell proliferation (By similarity). May be involved in centrosome assembly. Modulates stabilization and nucleolar localization of tumor suppressor CDKN2A and enhances association between CDKN2A and NPM1 (By similarity).

Gene Ontology (GO) - Molecular Function for TMUB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21343306
genes like me logo Genes that share ontologies with TMUB1: view
genes like me logo Genes that share phenotypes with TMUB1: view

Animal Models for TMUB1 Gene

MGI Knock Outs for TMUB1:

Animal Model Products

  • Taconic Biosciences Mouse Models for TMUB1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TMUB1 Gene

Localization for TMUB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMUB1 Gene

Membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane. Recycling endosome. Cytoplasm. Nucleus. Nucleus, nucleolus.
iHOPS: Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Nucleus, nucleolus. Nucleus. Note=iHOPS is proposed to be the shuttling form across different cellular compartments. XPO1-dependent exported from the nucleus in dividing cells. Predominantly nuclear during growth arrest. {ECO:0000250 UniProtKB:Q9JMG3}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMUB1 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
cytoskeleton 3
endosome 3
extracellular 2

Gene Ontology (GO) - Cellular Components for TMUB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IEA --
GO:0005737 cytoplasm IDA --
GO:0005768 endosome IEA --
GO:0005815 microtubule organizing center IEA --
genes like me logo Genes that share ontologies with TMUB1: view

Pathways & Interactions for TMUB1 Gene

SuperPathways for TMUB1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMUB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process IMP 21343306
genes like me logo Genes that share ontologies with TMUB1: view

No data available for Pathways by source and SIGNOR curated interactions for TMUB1 Gene

Transcripts for TMUB1 Gene

Unigene Clusters for TMUB1 Gene

Transmembrane and ubiquitin-like domain containing 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMUB1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c ^ 7a · 7b · 7c
SP1: - - - - - - - -
SP2: - - - - - - -
SP3: - - - - - -
SP4: - - - - -
SP5: - -
SP6: -
SP7: - -
SP8:

Relevant External Links for TMUB1 Gene

GeneLoc Exon Structure for
TMUB1
ECgene alternative splicing isoforms for
TMUB1

Expression for TMUB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TMUB1 Gene

Protein differential expression in normal tissues from HIPED for TMUB1 Gene

This gene is overexpressed in Liver (8.4), Bone (8.0), Testis (6.6), and Fetal testis (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TMUB1 Gene



Protein tissue co-expression partners for TMUB1 Gene

NURSA nuclear receptor signaling pathways regulating expression of TMUB1 Gene:

TMUB1

SOURCE GeneReport for Unigene cluster for TMUB1 Gene:

Hs.726215

mRNA Expression by UniProt/SwissProt for TMUB1 Gene:

Q9BVT8-TMUB1_HUMAN
Tissue specificity: Ubiquitously expressed with highest levels in mammary and thyroid glands, bone marrow and spleen; limited expression in cardiac, pancreatic and ovarian tissues.
genes like me logo Genes that share expression patterns with TMUB1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TMUB1 Gene

Orthologs for TMUB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMUB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMUB1 34 35
  • 100 (n)
dog
(Canis familiaris)
Mammalia TMUB1 34 35
  • 91.46 (n)
cow
(Bos Taurus)
Mammalia TMUB1 34 35
  • 90.38 (n)
mouse
(Mus musculus)
Mammalia Tmub1 34 16 35
  • 87.48 (n)
rat
(Rattus norvegicus)
Mammalia Tmub1 34
  • 87.35 (n)
oppossum
(Monodelphis domestica)
Mammalia TMUB1 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMUB1 34 35
  • 69.93 (n)
lizard
(Anolis carolinensis)
Reptilia TMUB1 35
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.11760 34
zebrafish
(Danio rerio)
Actinopterygii tmub1 34 35
  • 57.41 (n)
wufa98b10 34
worm
(Caenorhabditis elegans)
Secernentea B0303.4 35
  • 8 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5389 35
  • 22 (a)
OneToMany
Species where no ortholog for TMUB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TMUB1 Gene

ENSEMBL:
Gene Tree for TMUB1 (if available)
TreeFam:
Gene Tree for TMUB1 (if available)

Paralogs for TMUB1 Gene

Paralogs for TMUB1 Gene

(1) SIMAP similar genes for TMUB1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with TMUB1: view

Variants for TMUB1 Gene

Sequence variations from dbSNP and Humsavar for TMUB1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs10267625 -- 151,084,565(+) ccagg(C/T)gcagt upstream-variant-2KB
rs10271154 -- 151,084,984(+) CTAGA(C/T)GTGTG upstream-variant-2KB
rs1052467 -- 151,081,243(-) cccgT(C/G/T)TTAGT upstream-variant-2KB, utr-variant-3-prime
rs113100233 -- 151,081,768(+) CCGAC(G/T)CTCGT upstream-variant-2KB, reference, missense
rs114259190 -- 151,081,017(+) CCGTG(C/T)CCTTC intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for TMUB1 Gene

Variant ID Type Subtype PubMed ID
nsv951648 CNV deletion 24416366
nsv831188 CNV loss 17160897
nsv6004 CNV insertion 18451855
nsv465215 CNV loss 19166990
nsv1151906 OTHER inversion 26484159
nsv1067934 OTHER inversion 25765185
dgv6756n100 CNV gain 25217958
dgv3695n106 OTHER inversion 24896259
dgv11724n54 CNV loss 21841781

Variation tolerance for TMUB1 Gene

Residual Variation Intolerance Score: 54% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.91; 18.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMUB1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMUB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMUB1 Gene

Disorders for TMUB1 Gene

Relevant External Links for TMUB1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMUB1

No disorders were found for TMUB1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TMUB1 Gene

Publications for TMUB1 Gene

  1. Different functions of HOPS isoforms in the cell: HOPS shuttling isoform is determined by RIP cleavage system. (PMID: 24240191) Castelli M. … Servillo G. (Cell Cycle 2014) 3 4 64
  2. Membrane-associated ubiquitin ligase complex containing gp78 mediates sterol-accelerated degradation of 3-hydroxy-3-methylglutaryl-coenzyme A reductase. (PMID: 21343306) Jo Y. … DeBose-Boyd R.A. (J. Biol. Chem. 2011) 3 4 64
  3. Cloning and characterization of DULP, a novel ubiquitin-like molecule from human dendritic cells. (PMID: 19254477) Liu G.Y. … Yu Y.Z. (Cell. Mol. Immunol. 2009) 3 4 64
  4. HOPS: a novel cAMP-dependent shuttling protein involved in protein synthesis regulation. (PMID: 16014383) Della Fazia M.A. … Servillo G. (J. Cell Sci. 2005) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for TMUB1 Gene

Sources for TMUB1 Gene

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